Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D2
Variant:p.M1V
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TBC1D2

NM_001267571.2:p.M1V

Associated Papers

Whole‑exome sequencing identifies a novel mutation of SLC20A2 (c.C1849T) as a possible cause of hereditary multiple exostoses in a Chinese family.

Li Y et al.

Molecular Medicine Reports, 2020

32705272 (PubMed )
Supplement: Supplementary_Data1.xlsx › filter_by_duplicate

Identification of CRB1 mutations in two Chinese consanguineous families exhibiting autosomal recessive retinitis pigmentosa.

Guo X et al.

Molecular Medicine Reports, 2019

31322236 (PubMed )
Supplement: supplement_1.pdf

Apolipoprotein C-II: New findings related to genetics, biochemistry, and role in triglyceride metabolism.

Wolska A et al.

Atherosclerosis, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."